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Abbreviation : NF1
Long Form : neurofibromatosis type 1
No. Year Title Co-occurring Abbreviation
2021 A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient. ---
2021 A giant posterior mediastinal malignant peripheral nerve sheath tumor and benign neurofibroma in body surface: a case report. MPNST
2021 A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome. MEIS2
2021 A rare case of cerebellar pilomyxoid astrocytoma associated with neurofibromatosis-1 in a young female; case report highlighting immunohistochemical features. PMA
2021 A Rare Case of Diffuse Neurofibroma of the Scalp With Destructive Lesions Involving the Base of the Skull in a Patient With Neurofibromatosis Type 1. ---
2021 A rare case of malignant peripheral nerve sheath tumor of pleura and review of literature. MPNST
2021 A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17. ---
2021 A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I. CMMRD
2021 An Unusual Association between Neurofibromatosis Type 1 and Diffuse B Cell Lymphoma. MVA
10  2021 An Unusual Case of Retroperitoneal Plexiform Neurofibromas Found in a Trauma Patient. CNS
11  2021 Appendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report. VPS
12  2021 Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review. CVD
13  2021 Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1. ---
14  2021 Autism Spectrum Disorder Symptom Profile Across the RASopathies. ADI-R, ADOS, ASD, CFC, NS
15  2021 Biofabrication of a three dimensional human-based personalized neurofibroma model. TES
16  2021 Bone densitometry measurements in children with neurofibromatosis Type 1 using quantitative computed tomography. 25OHD, BMD, QCT
17  2021 Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France. BMD, CP, SC-NF
18  2021 Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial. AEs, MRI, PK, PNs, PROs, QoL
19  2021 Case Report: Chemotherapy Indication in a Case of Neurofibromatosis Type 1 Presenting Optic Pathway Glioma: A One-Year Clinical Case Study Using Differential Tractography Approach. dMRI, FOV, IHC, OPGs, OPs, OR, PA, ROI, SWAP, TMZ, WM
20  2021 Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia. AVF
21  2021 Central precocious puberty in a girl with LEGIUS syndrome: an accidental association? ---
22  2021 Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes. VOUS
23  2021 Chromosome 8 gain is associated with high-grade transformation in MPNST. MPNST, PDX
24  2021 Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence. BRCA1, BRCA2, NIH
25  2021 Circulating free DNA in the plasma of individuals with neurofibromatosis type 1. cfDNA, PNF
26  2021 Clinical assessment of the use of topical liquid diclofenac following laser microporation of cutaneous neurofibromas in individuals with neurofibromatosis type 1. cNF
27  2021 Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis. FISH
28  2021 Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review. MNF1
29  2021 Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1. ERP, WM
30  2021 Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020. DSS, HGG, MPNST, SEER
31  2021 Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1. CT, MRI, PN
32  2021 Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy. CALM, PNF
33  2021 Conservative management of neck and thoracic pain in an adult with neurofibromatosis-1. ---
34  2021 Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report. CMMRD, MRI, UBO
35  2021 Contralateral Breast Cancer With Multiple Primary Neoplasms in a Patient With Neurofibromatosis Type 1: A Case Report and Review of the Literature. ---
36  2021 Cordycepin inhibits the proliferation of malignant peripheral nerve sheath tumor cells through the p53/Sp1/tubulin pathway. ADA, MPNST
37  2021 Corneal endothelial cells and central corneal thickness in patients with neurofibromatosis type 1. AVG, CCT, ECD
38  2021 Correction: Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1). ---
39  2021 Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis. CNS, IR, LN, MRI, OCT, OPGs, RNFL
40  2021 Cutaneous Findings in Neurofibromatosis Type 1. ---
41  2021 Cystic Pancreatic Neuroendocrine Tumor in a Patient with Neurofibromatosis Type 1. PanNETs
42  2021 Debilitating Pain and Fractures: a Rare Case of Hypophosphatemic Osteomalacia with Concomitant Vitamin D Deficiency in Neurofibromatosis Type 1. ---
43  2021 Diagnostic Accuracy of MRI for the Detection of Malignant Peripheral Nerve Sheath Tumors: A Systematic Review and Meta-Analysis. BPNSTs
44  2021 Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report. ---
45  2021 Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I. ASD
46  2021 Ectropion Uveae in neurofibromatosis type 1: a new manifestation. CEU
47  2021 Effects of Age on White Matter Microstructure in Children With Neurofibromatosis Type 1. ---
48  2021 Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line. MPNSTs
49  2021 Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants. MRI, NGS
50  2021 Evaluation of the dimensions, morphology, and position of the mandibular condyles in individuals with neurofibromatosis 1: a case-control study. ---
51  2021 Executive functions in preschool-aged children with neurofibromatosis type 1: Value for early assessment. EFs
52  2021 Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum. ---
53  2021 FDA Approval Summary: Selumetinib for Plexiform Neurofibroma. CI, COA, DOR, FDA, MEK, NCI, ORR, PN, REiNS
54  2021 Feedback-Based Learning of Timing in Attention-Deficit/Hyperactivity Disorder and Neurofibromatosis Type 1. ADHD, HC
55  2021 Gadolinium-based contrast agents in neurofibromatosis type 1 (Review). MR
56  2021 Genetic disruption of the small GTPase RAC1 prevents plexiform neurofibroma formation in mice with neurofibromatosis type 17. ERK, RAC1, RAS
57  2021 Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth. CNF, PNF
58  2021 Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study. CNVs, MLPA, NGS, NIH, SNVs
59  2021 GIST associated with von recklinghausen disease: Report of two cases and review of literature. GIST
60  2021 Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants. MLPA, NGS
61  2021 Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS). TS, WS
62  2021 Identifying challenges in neurofibromatosis: a modified Delphi procedure. HGG, MPNST, NF2, SWN
63  2021 Importance of Thalamostriatal Pathway Associated With Neurocognitive Dysfunctions in Children With Neurofibromatosis Type 1: Diffusion Tensor Imaging Findings. ADC, FA, IQ
64  2021 Increased nuclear translation of YAP might act as a potential therapeutic target for NF1-related plexiform neurofibroma. PNF, YAP
65  2021 Inflammatory myofibroblastic tumour causing intestinal obstruction in a patient with neurofibromatosis type 1. IMTs
66  2021 Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1). LGGs, NF1-LGG
67  2021 Intracranial metastasis from a malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: A case study and literature review. MPNSTs, NF2
68  2021 Isolated intestinal Ganglioneuromatosis: case report and literature review. GNs, IG, MEN 2B
69  2021 Juvenile xanthogranuloma in Noonan syndrome. JMML, JXG, NS
70  2021 Lymphoproliferative malignancies in patients with neurofibromatosis 1. CI
71  2021 Malignant peripheral nerve sheath tumor of the orbit: a case report and review of the literature. ---
72  2021 Malignant peripheral nerve sheath tumor with analysis of various prognostic factors: A single-institutional experience. DFS, MPNST, OS
73  2021 Malignant peripheral nerve sheath tumour - A long story: Case report. IHC, MPNST
74  2021 Malignant transformation of NF1-associated spinal astrocytoma with loss of ATRX expression during the course: A case report. ---
75  2021 MEK inhibitors in RASopathies. LGGs, MEKi, PNF
76  2021 Microdont Developing Outside the Alveolar Process and Within Oral Diffuse and Plexiform Neurofibroma in Neurofibromatosis Type 1. ---
77  2021 MiR-27a-3p/miR-27b-3p Promotes Neurofibromatosis Type 1 via Targeting of NF1. CCK-8, EdU, HSC, miRNAs, MPNSTs, mRNA, RIP, RT-qPCR, TUNEL
78  2021 Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review. MB
79  2021 Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review. ---
80  2021 Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review. PNs, QoL
81  2021 Neurofibroma of the hard palate. ---
82  2021 Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib. ---
83  2021 Neurofibromatosis Type 1 and Vitamin B12. ---
84  2021 Neurofibromatosis Type 1 with Highly Active Relapsing-Remitting Multiple Sclerosis (RRMS). MS, RRMS
85  2021 Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriovenous fistula: case presentation and literature review. SAH
86  2021 Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients. MLPA
87  2021 NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. PNs
88  2021 Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications. ---
89  2021 Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1. ---
90  2021 Ocular biometric parameters changes and choroidal vascular abnormalities in patients with neurofibromatosis type 1 evaluated by OCT-A. RNFL, SLO, SS-OCTA
91  2021 Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. MRI, OBs, UBOs
92  2021 Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and Hürthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review. GIST
93  2021 Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations. CS, TSC, VHL
94  2021 Pheochromocytoma crisis in a patient with newly diagnosed neurofibromatosis type 1. ---
95  2021 Photodynamic Therapy for Benign Cutaneous Neurofibromas Using Aminolevulinic Acid Topical Application and 633 nm Red Light Illumination. ALA, cNF, PDT
96  2021 Plexiform Neurofibroma Without Neurofibromatosis Type 1. GAP, NF2, PNF
97  2021 Population pharmacokinetics and exposure-response of selumetinib and its N-desmethyl metabolite in pediatric patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas. AEs, BSA, PK, PN
98  2021 Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study. HRs, PRs
99  2021 Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention. ---
100  2021 Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. LGSS